J Korean Ophthalmol Soc.  2007 Jun;48(6):845-848.

A Case of Freeman-Sheldon Syndrome

• Park HK
• Byun YJ
• Yoon JS
• Lee SY

Abstract

PURPOSE: To report a patient with Freeman-Sheldon syndrome with blepharophimosis.
METHODS
A 4-year-old girl with congenital facial abnormalities consistent with Freeman-Sheldon syndrome presented with complaints of blepharophimosis. The characteristic features of microstomia, down-slanting palpebral fissure, blepharoptosis, and telecanthus were also found. Y-V epicanthoplasty and levator aponeurosis resection were performed.
RESULTS
Surgical intervention to correct ptosis and telecanthus led to initially fair cosmetic results, but one month later an unexpected decrease in interpalpebral fissure height was noted.
CONCLUSIONS
Freeman-Sheldon syndrome with blepharophimosis is very rare. It was necessary to correct blepharoptosis, telecanthus, and blepharophimosis in the oculoplastic service in this case.

Keyword

Blepharophimosis; Freeman-Sheldon syndrome; Whistling face syndrome

MeSH Terms

Blepharophimosis
Blepharoptosis
Child, Preschool
Female
Humans
Microstomia